Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
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Giugliani Roberto, Federhen Andressa, Rojas Maria Verônica Muñoz, Vieira Taiane, Artigalás Osvaldo, Pinto Louise Lapagesse, Azevedo Ana Cecília, Acosta Angelina, Bonfim Carmen, Lourenço Charles Marques, Kim Chong Ae, Horovitz Dafne, Bonfim Denize, Norato Denise, Marinho Diane, Palhares Durval, Santos Emerson Santana, Ribeiro Erlane, Valadares Eugênia, Guarany Fábio, de Lucca Gisele Rosone, Pimentel Helena, de Souza Isabel Neves, Correa Jordão, Fraga José Carlos, Goes José Eduardo, Cabral José Maria, Simionato José, Llerena Juan, Jardim Laura, Giuliani Liane, da Silva Luiz Carlos Santana, Santos Mara L, Moreira Maria Angela, Kerstenetzky Marcelo, Ribeiro Márcia, Ruas Nicole, Barrios Patricia, Aranda Paulo, Honjo Rachel, Boy Raquel, Costa Ronaldo, Souza Carolina, Alcantara Flavio F, Avilla Silvio Gilberto A, Fagondes Simone, Martins Ana Maria
Аннотация
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.